Canonical Allele Identifier: CA1799784075

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575874_86575875delinsCT , CM000670.2:g.86575874_86575875delinsCT	GRCh38
NC_000008.10:g.87588102_87588103delinsCT , CM000670.1:g.87588102_87588103delinsCT	GRCh37
NC_000008.9:g.87657218_87657219delinsCT	NCBI36
NG_016980.1:g.172801_172802delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2359_2360delinsAG MANE Select	ENSP00000316605.5:p.Ser787=
ENST00000681546.1:n.2179_2180delinsAG
ENST00000681746.1:c.*770_*771delinsAG	ENSP00000505959.1:n.*770_*771delinsAG
ENST00000320005.5:c.2359_2360delinsAG	ENSP00000316605.5:p.Ser787=
ENST00000517327.5:c.276+2814_276+2815delinsAG	ENSP00000428329.1:n.276+2814_276+2815delinsAG
NM_019098.4:c.2359_2360delinsAG	NP_061971.3:p.Ser787=
XM_011517138.1:c.1945_1946delinsAG	XP_011515440.1:p.Ser649=
XM_011517138.2:c.1945_1946delinsAG	XP_011515440.1:p.Ser649=
NM_019098.5:c.2359_2360delinsAG MANE Select	NP_061971.3:p.Ser787=